ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu)

gnomAD frequency: 0.00005  dbSNP: rs772596633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230199 SCV000286539 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000362897 SCV000333030 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000362897 SCV001794298 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150137 SCV003838646 likely benign Cardiomyopathy 2021-08-13 criteria provided, single submitter clinical testing

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